{"id":"https://openalex.org/W1973489592","doi":"https://doi.org/10.1016/j.ymeth.2015.04.016","title":"Inconsistency and features of single nucleotide variants detected in whole exome sequencing versus transcriptome sequencing: A case study in lung cancer","display_name":"Inconsistency and features of single nucleotide variants detected in whole exome sequencing versus transcriptome sequencing: A case study in lung cancer","publication_year":2015,"publication_date":"2015-04-25","ids":{"openalex":"https://openalex.org/W1973489592","doi":"https://doi.org/10.1016/j.ymeth.2015.04.016","mag":"1973489592","pmid":"https://pubmed.ncbi.nlm.nih.gov/25913717","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/4509831"},"language":"en","primary_location":{"id":"doi:10.1016/j.ymeth.2015.04.016","doi":"https://doi.org/10.1016/j.ymeth.2015.04.016","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.ymeth.2015.04.016","pdf_url":null,"source":{"id":"https://openalex.org/S73539393","display_name":"Methods","issn_l":"1046-2023","issn":["1046-2023","1095-9130"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Methods","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4509831","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5114377333","display_name":"Timothy D. O\u2019Brien","orcid":"https://orcid.org/0000-0001-9742-0930","observed_orcids":["https://orcid.org/0000-0001-9742-0930"]},"institutions":[{"id":"https://openalex.org/I200719446","display_name":"Vanderbilt University","ror":"https://ror.org/02vm5rt34","country_code":"US","type":"education","lineage":["https://openalex.org/I200719446"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Timothy D. O\u2019Brien","raw_affiliation_strings":["Center for Human Genetics Research, Vanderbilt University School of Medicine, Nashville, TN 37232, United States","Department of Biomedical Informatics, Vanderbilt University School of Medicine, Nashville, TN 37203, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Human Genetics Research, Vanderbilt University School of Medicine, Nashville, TN 37232, United States","institution_ids":["https://openalex.org/I200719446"]},{"raw_affiliation_string":"Department of Biomedical Informatics, Vanderbilt University School of Medicine, Nashville, TN 37203, United States","institution_ids":["https://openalex.org/I200719446"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056121087","display_name":"Peilin Jia","orcid":"https://orcid.org/0000-0003-4523-4153","observed_orcids":["https://orcid.org/0000-0003-4523-4153"]},"institutions":[{"id":"https://openalex.org/I200719446","display_name":"Vanderbilt University","ror":"https://ror.org/02vm5rt34","country_code":"US","type":"education","lineage":["https://openalex.org/I200719446"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Peilin Jia","raw_affiliation_strings":["Department of Biomedical Informatics, Vanderbilt University School of Medicine, Nashville, TN 37203, United States. Electronic address: peilin.jia@vanderbilt.edu","Department of Biomedical Informatics, Vanderbilt University School of Medicine, Nashville, TN 37203, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biomedical Informatics, Vanderbilt University School of Medicine, Nashville, TN 37203, United States. Electronic address: peilin.jia@vanderbilt.edu","institution_ids":["https://openalex.org/I200719446"]},{"raw_affiliation_string":"Department of Biomedical Informatics, Vanderbilt University School of Medicine, Nashville, TN 37203, United States","institution_ids":["https://openalex.org/I200719446"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5065943710","display_name":"Junfeng Xia","orcid":"https://orcid.org/0000-0003-3024-1705","observed_orcids":["https://orcid.org/0000-0003-3024-1705"]},"institutions":[{"id":"https://openalex.org/I200719446","display_name":"Vanderbilt University","ror":"https://ror.org/02vm5rt34","country_code":"US","type":"education","lineage":["https://openalex.org/I200719446"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Junfeng Xia","raw_affiliation_strings":["Department of Biomedical Informatics, Vanderbilt University School of Medicine, Nashville, TN 37203, United States. Electronic address: jfxia@ahu.edu.cn","Department of Biomedical Informatics, Vanderbilt University School of Medicine, Nashville, TN 37203, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biomedical Informatics, Vanderbilt University School of Medicine, Nashville, TN 37203, United States. Electronic address: jfxia@ahu.edu.cn","institution_ids":["https://openalex.org/I200719446"]},{"raw_affiliation_string":"Department of Biomedical Informatics, Vanderbilt University School of Medicine, Nashville, TN 37203, United States","institution_ids":["https://openalex.org/I200719446"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Uma Saxena","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Uma Saxena","raw_affiliation_strings":["Department of Pathology, Massachusetts General Hospital, Boston, MA 02114, United States. Electronic address: stqa8350@gmail.com","Department of Pathology, Massachusetts General Hospital, Boston, MA 02114, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology, Massachusetts General Hospital, Boston, MA 02114, United States. Electronic address: stqa8350@gmail.com","institution_ids":["https://openalex.org/I4210087915"]},{"raw_affiliation_string":"Department of Pathology, Massachusetts General Hospital, Boston, MA 02114, United States","institution_ids":["https://openalex.org/I4210087915"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056599239","display_name":"Hailing Jin","orcid":"https://orcid.org/0000-0002-7260-8723","observed_orcids":["https://orcid.org/0000-0002-7260-8723"]},"institutions":[{"id":"https://openalex.org/I200719446","display_name":"Vanderbilt University","ror":"https://ror.org/02vm5rt34","country_code":"US","type":"education","lineage":["https://openalex.org/I200719446"]},{"id":"https://openalex.org/I901861585","display_name":"Vanderbilt University Medical Center","ror":"https://ror.org/05dq2gs74","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210162197","https://openalex.org/I901861585"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Hailing Jin","raw_affiliation_strings":["Department of Medicine/Division of Hematology-Oncology, Vanderbilt University School of Medicine, Nashville, TN 37232, United States. Electronic address: hailing.jin@Vanderbilt.Edu","Department of Medicine/Division of Hematology-Oncology, Vanderbilt University School of Medicine, Nashville, TN 37232, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine/Division of Hematology-Oncology, Vanderbilt University School of Medicine, Nashville, TN 37232, United States. Electronic address: hailing.jin@Vanderbilt.Edu","institution_ids":["https://openalex.org/I200719446","https://openalex.org/I901861585"]},{"raw_affiliation_string":"Department of Medicine/Division of Hematology-Oncology, Vanderbilt University School of Medicine, Nashville, TN 37232, United States","institution_ids":["https://openalex.org/I200719446"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Huy Vuong","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I200719446","display_name":"Vanderbilt University","ror":"https://ror.org/02vm5rt34","country_code":"US","type":"education","lineage":["https://openalex.org/I200719446"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Huy Vuong","raw_affiliation_strings":["Department of Biomedical Informatics, Vanderbilt University School of Medicine, Nashville, TN 37203, United States. Electronic address: huy.vuong@gmail.com","Department of Biomedical Informatics, Vanderbilt University School of Medicine, Nashville, TN 37203, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biomedical Informatics, Vanderbilt University School of Medicine, Nashville, TN 37203, United States. Electronic address: huy.vuong@gmail.com","institution_ids":["https://openalex.org/I200719446"]},{"raw_affiliation_string":"Department of Biomedical Informatics, Vanderbilt University School of Medicine, Nashville, TN 37203, United States","institution_ids":["https://openalex.org/I200719446"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014102611","display_name":"Pora Kim","orcid":"https://orcid.org/0000-0002-8321-6864","observed_orcids":["https://orcid.org/0000-0002-8321-6864"]},"institutions":[{"id":"https://openalex.org/I200719446","display_name":"Vanderbilt University","ror":"https://ror.org/02vm5rt34","country_code":"US","type":"education","lineage":["https://openalex.org/I200719446"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Pora Kim","raw_affiliation_strings":["Department of Biomedical Informatics, Vanderbilt University School of Medicine, Nashville, TN 37203, United States. Electronic address: pora.kim@vanderbilt.edu","Department of Biomedical Informatics, Vanderbilt University School of Medicine, Nashville, TN 37203, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biomedical Informatics, Vanderbilt University School of Medicine, Nashville, TN 37203, United States. Electronic address: pora.kim@vanderbilt.edu","institution_ids":["https://openalex.org/I200719446"]},{"raw_affiliation_string":"Department of Biomedical Informatics, Vanderbilt University School of Medicine, Nashville, TN 37203, United States","institution_ids":["https://openalex.org/I200719446"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100682410","display_name":"Qingguo Wang","orcid":"https://orcid.org/0000-0002-5125-3724","observed_orcids":["https://orcid.org/0000-0002-5125-3724"]},"institutions":[{"id":"https://openalex.org/I200719446","display_name":"Vanderbilt University","ror":"https://ror.org/02vm5rt34","country_code":"US","type":"education","lineage":["https://openalex.org/I200719446"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Qingguo Wang","raw_affiliation_strings":["Department of Biomedical Informatics, Vanderbilt University School of Medicine, Nashville, TN 37203, United States. Electronic address: josephw10000@gmail.com","Department of Biomedical Informatics, Vanderbilt University School of Medicine, Nashville, TN 37203, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biomedical Informatics, Vanderbilt University School of Medicine, Nashville, TN 37203, United States. Electronic address: josephw10000@gmail.com","institution_ids":["https://openalex.org/I200719446"]},{"raw_affiliation_string":"Department of Biomedical Informatics, Vanderbilt University School of Medicine, Nashville, TN 37203, United States","institution_ids":["https://openalex.org/I200719446"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050285238","display_name":"Martin J. Aryee","orcid":"https://orcid.org/0000-0002-6848-1344","observed_orcids":["https://orcid.org/0000-0002-6848-1344"]},"institutions":[{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Martin J. Aryee","raw_affiliation_strings":["Department of Pathology, Massachusetts General Hospital, Boston, MA 02114, United States. Electronic address: Aryee.Martin@mgh.harvard.edu","Department of Pathology, Massachusetts General Hospital, Boston, MA 02114, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology, Massachusetts General Hospital, Boston, MA 02114, United States. Electronic address: Aryee.Martin@mgh.harvard.edu","institution_ids":["https://openalex.org/I136199984","https://openalex.org/I4210087915"]},{"raw_affiliation_string":"Department of Pathology, Massachusetts General Hospital, Boston, MA 02114, United States","institution_ids":["https://openalex.org/I4210087915"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072389805","display_name":"Mari A. Mino-Kenudson","orcid":"https://orcid.org/0000-0002-9092-2265","observed_orcids":["https://orcid.org/0000-0002-9092-2265"]},"institutions":[{"id":"https://openalex.org/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Mari Mino-Kenudson","raw_affiliation_strings":["Department of Pathology, Massachusetts General Hospital, Boston, MA 02114, United States. Electronic address: MMINOKENUDSON@partners.org","Department of Pathology, Massachusetts General Hospital, Boston, MA 02114, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology, Massachusetts General Hospital, Boston, MA 02114, United States. Electronic address: MMINOKENUDSON@partners.org","institution_ids":["https://openalex.org/I4210087915"]},{"raw_affiliation_string":"Department of Pathology, Massachusetts General Hospital, Boston, MA 02114, United States","institution_ids":["https://openalex.org/I4210087915"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040093136","display_name":"Jeffrey A. Engelman","orcid":"https://orcid.org/0009-0004-0775-4523","observed_orcids":["https://orcid.org/0009-0004-0775-4523"]},"institutions":[{"id":"https://openalex.org/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jeffrey A. Engelman","raw_affiliation_strings":["Department of Medicine, Division of Hematology and Oncology, Massachusetts General Hospital, Boston, MA 02114, United States. Electronic address: JENGELMAN@partners.org","Department of Medicine, Division of Hematology and Oncology, Massachusetts General Hospital, Boston, MA 02114, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine, Division of Hematology and Oncology, Massachusetts General Hospital, Boston, MA 02114, United States. Electronic address: JENGELMAN@partners.org","institution_ids":["https://openalex.org/I4210087915"]},{"raw_affiliation_string":"Department of Medicine, Division of Hematology and Oncology, Massachusetts General Hospital, Boston, MA 02114, United States","institution_ids":["https://openalex.org/I4210087915"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5078810229","display_name":"Long P. Le","orcid":"https://orcid.org/0000-0003-4212-6528","observed_orcids":["https://orcid.org/0000-0003-4212-6528"]},"institutions":[{"id":"https://openalex.org/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Long P. Le","raw_affiliation_strings":["Department of Pathology, Massachusetts General Hospital, Boston, MA 02114, United States. Electronic address: LPLE@partners.org","Department of Pathology, Massachusetts General Hospital, Boston, MA 02114, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology, Massachusetts General Hospital, Boston, MA 02114, United States. Electronic address: LPLE@partners.org","institution_ids":["https://openalex.org/I4210087915"]},{"raw_affiliation_string":"Department of Pathology, Massachusetts General Hospital, Boston, MA 02114, United States","institution_ids":["https://openalex.org/I4210087915"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056275493","display_name":"Anthony John Iafrate","orcid":"https://orcid.org/0000-0002-7888-4067","observed_orcids":["https://orcid.org/0000-0002-7888-4067"]},"institutions":[{"id":"https://openalex.org/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"A. John Iafrate","raw_affiliation_strings":["Department of Pathology, Massachusetts General Hospital, Boston, MA 02114, United States. Electronic address: AIAFRATE@partners.org","Department of Pathology, Massachusetts General Hospital, Boston, MA 02114, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology, Massachusetts General Hospital, Boston, MA 02114, United States. Electronic address: AIAFRATE@partners.org","institution_ids":["https://openalex.org/I4210087915"]},{"raw_affiliation_string":"Department of Pathology, Massachusetts General Hospital, Boston, MA 02114, United States","institution_ids":["https://openalex.org/I4210087915"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064382279","display_name":"Rebecca Suk Heist","orcid":"https://orcid.org/0000-0002-7397-2009","observed_orcids":["https://orcid.org/0000-0002-7397-2009"]},"institutions":[{"id":"https://openalex.org/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Rebecca S. Heist","raw_affiliation_strings":["Department of Medicine, Division of Hematology and Oncology, Massachusetts General Hospital, Boston, MA 02114, United States. Electronic address: RHEIST@partners.org","Department of Medicine, Division of Hematology and Oncology, Massachusetts General Hospital, Boston, MA 02114, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine, Division of Hematology and Oncology, Massachusetts General Hospital, Boston, MA 02114, United States. Electronic address: RHEIST@partners.org","institution_ids":["https://openalex.org/I4210087915"]},{"raw_affiliation_string":"Department of Medicine, Division of Hematology and Oncology, Massachusetts General Hospital, Boston, MA 02114, United States","institution_ids":["https://openalex.org/I4210087915"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5062616992","display_name":"William J. Pao","orcid":"https://orcid.org/0000-0002-9888-0733","observed_orcids":["https://orcid.org/0000-0002-9888-0733"]},"institutions":[{"id":"https://openalex.org/I200719446","display_name":"Vanderbilt University","ror":"https://ror.org/02vm5rt34","country_code":"US","type":"education","lineage":["https://openalex.org/I200719446"]},{"id":"https://openalex.org/I901861585","display_name":"Vanderbilt University Medical Center","ror":"https://ror.org/05dq2gs74","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210162197","https://openalex.org/I901861585"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"William Pao","raw_affiliation_strings":["Department of Medicine/Division of Hematology-Oncology, Vanderbilt University School of Medicine, Nashville, TN 37232, United States. Electronic address: william.pao@Vanderbilt.Edu","Department of Medicine/Division of Hematology-Oncology, Vanderbilt University School of Medicine, Nashville, TN 37232, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine/Division of Hematology-Oncology, Vanderbilt University School of Medicine, Nashville, TN 37232, United States. Electronic address: william.pao@Vanderbilt.Edu","institution_ids":["https://openalex.org/I200719446","https://openalex.org/I901861585"]},{"raw_affiliation_string":"Department of Medicine/Division of Hematology-Oncology, Vanderbilt University School of Medicine, Nashville, TN 37232, United States","institution_ids":["https://openalex.org/I200719446"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5006688612","display_name":"Zhongming Zhao","orcid":"https://orcid.org/0000-0002-3477-0914","observed_orcids":["https://orcid.org/0000-0002-3477-0914"]},"institutions":[{"id":"https://openalex.org/I200719446","display_name":"Vanderbilt University","ror":"https://ror.org/02vm5rt34","country_code":"US","type":"education","lineage":["https://openalex.org/I200719446"]},{"id":"https://openalex.org/I901861585","display_name":"Vanderbilt University Medical Center","ror":"https://ror.org/05dq2gs74","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210162197","https://openalex.org/I901861585"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Zhongming Zhao","raw_affiliation_strings":["Department of Biomedical Informatics, Vanderbilt University School of Medicine, Nashville, TN 37203, United States; Department of Psychiatry, Vanderbilt University School of Medicine, Nashville, TN 37232, United States; Department of Cancer Biology, Vanderbilt University School of Medicine, Nashville, TN 37232, United States. Electronic address: zhongming.zhao@vanderbilt.edu","Department of Biomedical Informatics, Vanderbilt University School of Medicine, Nashville, TN 37203, United States","Department of Cancer Biology, Vanderbilt University School of Medicine, Nashville, TN 37232, United States","Department of Psychiatry, Vanderbilt University School of Medicine, Nashville, TN 37232, United States"],"raw_orcid":"https://orcid.org/0000-0002-3477-0914","affiliations":[{"raw_affiliation_string":"Department of Biomedical Informatics, Vanderbilt University School of Medicine, Nashville, TN 37203, United States; Department of Psychiatry, Vanderbilt University School of Medicine, Nashville, TN 37232, United States; Department of Cancer Biology, Vanderbilt University School of Medicine, Nashville, TN 37232, United States. Electronic address: zhongming.zhao@vanderbilt.edu","institution_ids":["https://openalex.org/I200719446","https://openalex.org/I901861585"]},{"raw_affiliation_string":"Department of Biomedical Informatics, Vanderbilt University School of Medicine, Nashville, TN 37203, United States","institution_ids":["https://openalex.org/I200719446"]},{"raw_affiliation_string":"Department of Cancer Biology, Vanderbilt University School of Medicine, Nashville, TN 37232, United States","institution_ids":["https://openalex.org/I200719446"]},{"raw_affiliation_string":"Department of Psychiatry, Vanderbilt University School of Medicine, Nashville, TN 37232, United States","institution_ids":["https://openalex.org/I200719446"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5006688612"],"corresponding_institution_ids":["https://openalex.org/I200719446","https://openalex.org/I901861585"],"apc_list":{"value":3600,"currency":"USD","value_usd":3600},"apc_paid":null,"fwci":3.6497,"has_fulltext":false,"cited_by_count":43,"citation_normalized_percentile":{"value":0.93339037,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":99},"biblio":{"volume":"83","issue":null,"first_page":"118","last_page":"127"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.4832000136375427,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.4832000136375427,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11287","display_name":"Cancer Genomics and Diagnostics","score":0.33399999141693115,"subfield":{"id":"https://openalex.org/subfields/1306","display_name":"Cancer Research"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10015","display_name":"Genomics and Phylogenetic Studies","score":0.16140000522136688,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/single-nucleotide-variants","display_name":"single nucleotide variants","score":0.9929999709129333},{"id":"https://openalex.org/keywords/whole-exome-sequencing","display_name":"exome sequencing","score":0.8700000047683716},{"id":"https://openalex.org/keywords/rna-sequencing","display_name":"RNA sequencing","score":0.9279999732971191},{"id":"https://openalex.org/keywords/somatic-mutations","display_name":"somatic mutations","score":0.7559999823570251},{"id":"https://openalex.org/keywords/lung-cancer","display_name":"lung cancer","score":0.9850000143051147},{"id":"https://openalex.org/keywords/tumor-normal-pairs","display_name":"tumor-normal pairs","score":0.578000009059906},{"id":"https://openalex.org/keywords/rna-editing","display_name":"RNA editing","score":0.7580000162124634},{"id":"https://openalex.org/keywords/low-coverage","display_name":"low coverage","score":0.4449999928474426},{"id":"https://openalex.org/keywords/gene-expression","display_name":"gene expression","score":0.6039999723434448}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6728798151016235},{"id":"https://openalex.org/C67705224","wikidata":"https://www.wikidata.org/wiki/Q11053","display_name":"RNA","level":3,"score":0.6607592105865479},{"id":"https://openalex.org/C107397762","wikidata":"https://www.wikidata.org/wiki/Q2542347","display_name":"RNA-Seq","level":5,"score":0.6412844061851501},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.6142563819885254},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5637251138687134},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.538442850112915},{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.4952830374240875},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.47645285725593567},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.44568103551864624},{"id":"https://openalex.org/C21786251","wikidata":"https://www.wikidata.org/wiki/Q14886350","display_name":"RNA editing","level":4,"score":0.43963223695755005},{"id":"https://openalex.org/C162317418","wikidata":"https://www.wikidata.org/wiki/Q252857","display_name":"Transcriptome","level":4,"score":0.39529716968536377},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.28591760993003845},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.27330344915390015}],"mesh":[{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008175","descriptor_name":"Lung Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059467","descriptor_name":"Transcriptome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D059472","descriptor_name":"Exome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":4,"locations":[{"id":"doi:10.1016/j.ymeth.2015.04.016","doi":"https://doi.org/10.1016/j.ymeth.2015.04.016","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.ymeth.2015.04.016","pdf_url":null,"source":{"id":"https://openalex.org/S73539393","display_name":"Methods","issn_l":"1046-2023","issn":["1046-2023","1095-9130"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Methods","raw_type":"journal-article"},{"id":"pmid:25913717","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/25913717","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Methods (San Diego, Calif.)","raw_type":"Journal Article"},{"id":"pmh:oai:europepmc.org:3910485","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4509831","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:4509831","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4509831","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"Methods","raw_type":"Text"}],"best_oa_location":{"id":"pmh:oai:europepmc.org:3910485","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4509831","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":null,"raw_type":"Text"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.7246000170707703}],"study_designs":[],"awards":[{"id":"https://openalex.org/G3402196040","display_name":"Mapping the Genetic Architecture of Complex Disease via RNA-seq and GWAS","funder_award_id":"R01LM011177","funder_id":"https://openalex.org/F4320337372","funder_display_name":"U.S. National Library of Medicine"},{"id":"https://openalex.org/G4841106333","display_name":"SPORE in GI Cancer","funder_award_id":"P50CA095103","funder_id":"https://openalex.org/F4320337351","funder_display_name":"National Cancer Institute"},{"id":"https://openalex.org/G7036770558","display_name":"Training Program on Genetic Variation and Human Phenotypes","funder_award_id":"T32GM080178","funder_id":"https://openalex.org/F4320337354","funder_display_name":"National Institute of General Medical Sciences"},{"id":"https://openalex.org/G7248731751","display_name":"SPORE in Breast Cancer","funder_award_id":"P50CA098131","funder_id":"https://openalex.org/F4320337351","funder_display_name":"National Cancer Institute"},{"id":"https://openalex.org/G9000880732","display_name":"Cancer Center Support Grant","funder_award_id":"P30CA068485","funder_id":"https://openalex.org/F4320337351","funder_display_name":"National Cancer Institute"}],"funders":[{"id":"https://openalex.org/F4320306997","display_name":"LUNGevity Foundation","ror":"https://ror.org/02t0s0z58"},{"id":"https://openalex.org/F4320309151","display_name":"Vanderbilt University","ror":"https://ror.org/02vm5rt34"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337351","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81"},{"id":"https://openalex.org/F4320337354","display_name":"National Institute of General Medical Sciences","ror":"https://ror.org/04q48ey07"},{"id":"https://openalex.org/F4320337372","display_name":"U.S. National Library of Medicine","ror":"https://ror.org/0060t0j89"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":34,"referenced_works":["https://openalex.org/W162041093","https://openalex.org/W1527347967","https://openalex.org/W1970703807","https://openalex.org/W1975922601","https://openalex.org/W1998430163","https://openalex.org/W2004590033","https://openalex.org/W2007495581","https://openalex.org/W2044433401","https://openalex.org/W2062834553","https://openalex.org/W2064310798","https://openalex.org/W2071480068","https://openalex.org/W2078512370","https://openalex.org/W2080171212","https://openalex.org/W2086764744","https://openalex.org/W2099382478","https://openalex.org/W2103441770","https://openalex.org/W2108234281","https://openalex.org/W2119180969","https://openalex.org/W2128542677","https://openalex.org/W2131876608","https://openalex.org/W2138170649","https://openalex.org/W2138825103","https://openalex.org/W2140375385","https://openalex.org/W2140729960","https://openalex.org/W2141458291","https://openalex.org/W2148351505","https://openalex.org/W2155943701","https://openalex.org/W2161821474","https://openalex.org/W2162116127","https://openalex.org/W2163188200","https://openalex.org/W2168133698","https://openalex.org/W2180481128","https://openalex.org/W2259938310","https://openalex.org/W4247053599"],"related_works":["https://openalex.org/W2022714591","https://openalex.org/W2762224802","https://openalex.org/W3197962379","https://openalex.org/W1993023683","https://openalex.org/W2893501133","https://openalex.org/W2950773377","https://openalex.org/W2066589431","https://openalex.org/W4411336604","https://openalex.org/W2081397245","https://openalex.org/W1998430163"],"abstract_inverted_index":null,"counts_by_year":[{"year":2025,"cited_by_count":3},{"year":2024,"cited_by_count":3},{"year":2023,"cited_by_count":4},{"year":2022,"cited_by_count":4},{"year":2021,"cited_by_count":5},{"year":2020,"cited_by_count":6},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":9},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":4}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
